Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience

Our findings demonstrate the high diagnostic yield of WES and its substantial impact on clinical outcomes. WES has facilitated changes in diagnosis, treatment adjustments, prognostic modifications, and preventive measures, supporting its utility in undiagnosed neurometabolic diseases. This study advocates for WES in pediatric neurometabolic cases, particularly where consanguinity is present.